MODULE 2 (LIPID STORAGE DISEASES)

Tay-Sach’s Disease

Deficiency: Hexosaminidase A = ↑ Gangliosides

Fabry’s

Deficiency: Alpha-galactosidase = ↑ Globosides (Sugar: Glucose and Galactose)

Krabbe’s

Deficiency: Beta-galactosidase = ↑ Galactosylceramide or galactocerebrosides

Gaucher’s

Deficiency: Beta-glucosidase = ↑ Glucosylceramide or glucocerebrosides

- the most common of the lysosomal storage diseases, is an autosomal recessive disorder due to deficiency of glucocerebrosidase (acid β-glucosidase).

Niemann-Pick

Deficiency: Spingomyelinase = ↑ Sphingomyelin

Farber’s

Deficiency: Ceramidase = ↑ Ceramide